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Journal of Human Genetics|April 6, 2018
QIL1-dependent assembly of MICOS complex-lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardationJ Gödiker, M Grüneberg, I DuChesne, et al.Molecular Genetics and Metabolism|March 27, 2007
Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patientsRutger O Vogel, Mariël A M van den Brand, Richard J Rodenburg, et al.Human Mutation|March 11, 2015
Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing lossBryn D Webb, Patricia G Wheeler, Jacob J Hagen, et al.Journal of the American College of Cardiology|November 19, 2021
Moderate Intensity Exercise Training Improves Skeletal Muscle Performance in Symptomatic and Asymptomatic Statin UsersNeeltje A E Allard, Lando Janssen, Thorben Aussieker, et al.Journal of Neurology|June 1, 1994
The effects of an ACTH (4-9) analogue on development of cisplatin neuropathy in testicular cancer: a randomized trialJ M van Gerven, A Hovestadt, J W Moll, et al.Biochimica Et Biophysica Acta|October 29, 2011
Transcriptional changes in OXPHOS complex I deficiency are related to anti-oxidant pathways and could explain the disturbed calcium homeostasisA M Voets, M Huigsloot, P J Lindsey, et al.Plos Computational Biology|August 7, 2023
Comparative Clustering (CompaCt) of eukaryote complexomes identifies novel interactions and sheds light on protein complex evolutionJoeri van Strien, Felix Evers, Madhurya Lutikurti, et al.JIMD Reports|January 4, 2016
Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?Charlotte Thiels, Martin Fleger, Martina Huemer, et al.BJOG : an International Journal of Obstetrics and Gynaecology|February 15, 2020
A core outcome set for hyperemesis gravidarum research: an international consensus studyLaw Jansen, M H Koot, J Van't Hooft, et al.Journal of Cell Science|March 10, 2011
Depletion of PINK1 affects mitochondrial metabolism, calcium homeostasis and energy maintenanceBavo Heeman, Chris Van den Haute, Sarah-Ann Aelvoet, et al.Pageof 22